A Case Report: Hybrid Treatment Approach to Lipoid Proteinosis of the Larynx.

OBJECTIVE: Previous research on treatment of lipoid proteinosis has focused on genetic etiology and clinical diagnosis of this rare laryngeal disorder. However, few studies on this disorder have examined treatment methods directed at improving voice qualities. The purpose of this study was to examine a novel hybrid treatment approach and its improvements in the patient's voice quality. STUDY DESIGN AND METHODS: In this case study, a 27-year-old man complaining of hoarseness of voice and effortful phonation was diagnosed with lipoid proteinosis. He was then prescribed a combination of surgical intervention and voice therapy to improve his overall voice quality. RESULTS: The results of the posttreatment evaluation demonstrate significant improvements in both objective and subjective voice quality measurements. CONCLUSION: A further examination of this hybrid approach in the treatment of lipoid proteinosis is warranted to determine its efficacy.

Treatment of lipoid proteinosis due to the p.C220G mutation in ECM1, a major allele in Chinese patients.

BACKGROUND: Lipoid proteinosis (LP) is known to be resulted from mutations of the extracellular matrix protein 1 gene (ECM1). However, no effective or sustained therapeutic methods to alleviate LP symptoms have been reported. METHODS: Here, we report a 12-year-old boy with LP and recurrent anaphylaxis. The laboratory and histopathological investigations were adopted to confirm the diagnosis, and gene sequencing was performed. We treated this patient with glucocorticoid for three years to relieve the patient's lipid metabolism disorder and symptoms related to LP and anaphylaxis. RESULTS: The Laboratory and histopathological investigations showed a lipid metabolism disorder and anaphylaxis in the patient. A homozygous missense mutation p.C220G of ECM1 was identified by Sanger sequencing, which is a major allele in Chinese patients with LP. Notably, after three years' treatment, the symptoms such as skin lesions, stiff oral mucosa and hoarse voice in the patient were significantly relieved or recovered. CONCLUSIONS: Our report may provide a potentially effective therapeutic approach for the first time to other LP patients who are experiencing recurrent anaphylaxis and/or chronic inflammation.

Pentoxifilina como tratamiento efectivo de la lipoidoproteinosis / Pentoxifylline as an effective treatment of lipoidoproteinosis

La lipoido proteinosis es una enfermedad rara, que ocurre por un defecto en el gen que codifica la proteína de la matriz extracelular 1 (ECM1). Estogenera un aumento del colágeno tipo IV, que resulta en depósitos de material hialino anómalo en la dermis y otros tejidos. Actualmente no hay terapias curativas y los múltiples tratamientos utilizados han tenido resultados variables y efectos adversos relevantes.La pentoxifilina es un fármaco que inhibe al factor de crecimiento transformante beta (TGF-beta) y así, regula la producción de colágeno por los fibroblastos. Se ha empleado con éxito en casos de fibrosis renal, hepática y pulmonar y luego de la radioterapia. Se presenta este caso que constituye la primera comunicación de lipoidoproteinosis tratada con pentoxifilina, en el que se evidenció una mejoría clínica, ecográfica y laringoscópica.

Lipoid proteinosisis a rare disease, causedby a defect in the gene encoding the extracellular matrix protein 1 (ECM1), that leads to an increased of collagen type IV, resulting in abnormal deposits of hyaline material in the dermis and other tissues. Currently, there are no curative therapies; several ones have been used with varied results and adverse effects. Pentoxifylline is a drug with inhibitory effect on TGF-beta, thus regulates collagen production by fibroblasts. It has been successfully used in renal, liver and lung transplant and after radiotherapy fibrosis. We present this case because it is the first report of lipoid proteinosis treated with pentoxifylline; with demonstrated clinical, sonographic and laryngoscopic improvement.

Lipoidoproteinosis / Lipoid proteinosis

La lipoidoproteinosis es una enfermedad poco frecuente, debida al depósito de un material hialino PAS+ diastasa resistente en la piel y en el tracto respiratorio, aunque también puede depositarse en órganos internos, de forma generalmente asintomática. La manifestación clínica más temprana es la ronquera. La sintomatología cutánea es más tardía, en forma de lesiones hiperqueratósicas localizadas en tronco, codos, axilas, ingles, dorso de manos, palmas y plantas. Una lesión típica de la enfermedad es la blefarosis moniliforme, que consiste en pápulas arrosariadas en el borde libre de párpados. Es también característica la presencia de calcificaciones intracraneales en forma de coma en los lóbulos temporales. El curso de la enfermedad es progresivo, con una esperanza de vida normal. Afecta por igual a hombres y mujeres con una distribución mundial. El diagnóstico se basa en la sintomatología y la histología. No existe hasta el momento un tratamiento eficaz de la enfermedad. Presentamos un caso de lipoidoproteinosis en una mujer de 23 años, con características clínicas e histológicas típicas

Lipoid proteinosis is an infrequent disease characterized by the deposition of a PAS-positive diastase-resistant hyaline material in the skin and respiratory tract, although it can also be deposited in internal organs, in a generally asymptomatic manner. The earliest clinical manifestation is hoarseness. Clinical cutaneous manifestations come later, in the form of hyperkeratotic lesions located on the trunk, elbows, axillae, groins, backs of hands, palms and soles. A lesion typical of the disease is moniliform blepharosis, which consists of beaded papules along the eyelid margins. Also characteristic is the presence of comma-shaped intracranial calcifications in the temporal lobes. The course of the disease is progressive, with a normal life expectancy. It affects men and women equally, with worldwide distribution. The diagnosis is based on the clinical symptoms and the histology. At this time, there is no effective treatment for the disease. We present a case of lipoid proteinosis in a 23-year-old woman, with typical clinical and histological characteristics

Selected disorders of connective tissue: pseudoxanthoma elasticum, cutis laxa, and lipoid proteinosis.

There has been progress made in the understanding of 3 Mendelian disorders: pseudoxanthoma elasticum, cutis laxa, and lipoid proteinosis cutis and mucosae. While they are primary connective tissue diseases, their names imply a connection to the skin, and in fact, it is often the dermatologist who makes the diagnosis. It seems rational that defects in various extracellular matrix proteins cause lipoid proteinosis or subtypes of cutis laxa, yet the discovery of a liver- and kidney-based transmembrane transporter as the culprit of pseudoxanthoma elasticum was rather surprising and may shed new light on elastic tissue homeostasis.

Hyalinosis cutis et mucosae: a 30 year follow up of a female patient.

Hyalinosis cutis et mucosae is an inherited disease, characterized by deposition of a hyaline-like substance in the dermis and internal organs. In the present study, we report a 30 year follow up in a female patient with hyalinosis cutis et mucosae treated using dermabrasion and oral retinoids. In our opinion, the lesion on uncovered body areas should be corrected as soon as possible to enable a normal psychophysical development. The lesions on skin and oral mucosa may be successfully removed without remission with dermabrasion in early childhood. In addition, oral retinoids in adulthood may produce some improvement.

Lipoid proteinosis in two siblings: a report from India.

Lipoid proteinosis is an autosomally recessive genodermatosis characterized by widespread deposition of eosinophilic hyaline-like material in the skin, mucous membranes, and other internal organs. Occurrence of lipoid proteinosis in siblings is very rare. We report two siblings from the Indian subcontinent with the classical features of lipoid proteinosis. Both the siblings had had hoarseness of voice and spontaneous vesicular eruptions healing with atrophic scars since their early childhood. They had diffuse waxy thickening of the skin along with beaded papules along the eyelid margin. The tongue was also infiltrated. Skin biopsy demonstrated periodic acid Schiff (PAS) positive eosinophilic material around the blood vessels and appendages.

Lipoid proteinosis.

Lipoid proteinosis is a rare, autosomal recessive disorder that presents in early infancy with hoarseness, followed by pox-like and acneiform scars, along with infiltration and thickening of the skin and certain mucous membranes. Histological and ultrastructural examination reveals widespread deposition of hyaline-like material and disruption/reduplication of basement membrane around blood vessels and at the dermal--epidermal junction. Recently, lipoid proteinosis was mapped to 1q21 and pathogenetic loss-of-function mutations were identified in the extracellular matrix protein 1 gene (ECM1). This article reviews the molecular basis of lipoid proteinosis and reassesses the clinico-pathological features of this disorder in light of the new genetic discoveries.

Cutaneous deposition diseases. Part I.

The cutaneous deposition disorders are a group of unrelated conditions characterized by the presence of either endogenous or exogenous substances within the dermis or the subcutis. Part I of this two-part series will focus on metabolic processes involved in the endogenous deposition in the various forms of amyloidosis, porphyria, colloid milium, and lipoid proteinosis. We will also review the clinical, histologic, biochemical, and ultrastructural findings relevant to each disorder. Basic mechanisms of pathogenesis, diagnostic modalities, and treatment options are also discussed.

Síndrome de Urbach-Wiethe: relato de caso / Urbach-Wiethe disease: a case report

Descriçäo de um caso de síndrome de Urbach-Wiethe - ou lipoidoproteinose, doença rara, de herança autossômica recessiva, que se caracteriza por deposiçäo de material hialino na pele, cavidade oral e outros tecidos. Usualmente cursa com rouquidäo desde a infância. Relata-se caso de lipoidoproteinose em uma mulher de 22 anos, que demonstra características clínicas e histológicas típicas dessa patologia.

[Alveolar lipoproteinosis treated by bronchopulmonary lavage]. / Lipoproteinosis alveolar tratada con lavado broncopulmonar.

Alveolar lipoproteinosis is a rare disease, a review of the Spanish Medical Index for 1971 to June 1994 showing only 9 reported cases. The intra-alveolar deposit of lipoprotein-type matter produces severe hypoxemia and favors infection by opportunistic germs. Treatment with massive bronchial lavage (MBL) removes the matter from the alveolar space, improves gas exchange and decreases the risk of infection. We report a case of primary alveolar lipoproteinosis treated with MBL in which the patient developed infections by Aspergillus fumigatus before lavage and after starting steroid treatment. The procedure was performed without complications, with significant clinical and gasometric improvement. The natural evolution of this disease is poorly understood. Spontaneous remissions have been observed, and as MBL is not a risk-free procedures, its use in treatment is controversial. We believe that when severe hypoxemia is present, MBL should be used early, when the risk is slight; MBL improves gas exchange and probably reduces the risk of opportunistic infection.

Lipoid proteinosis: clinical, histologic, and ultrastructural investigations.

The case of a 12-year-old boy with lipoid proteinosis is reported. Physical examination revealed long-standing varicella-like scars and areas of hyperpigmentation on the face and upper limbs with no evidence of photosensitivity, hoarseness, small papules along the free margins of eyelids, tongue firmness with short frenulum, and widespread papular lesions of the oral cavity. Histologic and ultrastructural examination revealed the characteristic skin changes: pink, hyaline-like, strongly periodic acid-Schiff-positive material in the dermis, surrounding blood vessels, and sweat glands; thin (30 to 35 nm) collagen fibrils interspersed in abundant amorphous material; blood vessels surrounded by thickened, multilayered basement membranes, in which layers of typical, homogeneous basement membrane material were alternating with electronlucent areas filled by various amounts of thin, cross-striated fibrils, arranged perpendicularly. These findings are of great interest since they show a complex relationship between type IV and type III-like collagen components.

Pulmonary alveolar lipoproteinosis complicating juvenile dermatomyositis.

A 9 year old boy with juvenile dermatomyositis developed pulmonary alveolar lipoproteinosis. This previously unreported association was treated successfully by bronchoalveolar lavage.

[Urbach-Wiethe disease. Apropos of 2 cases]. / La maladie d'Urbach-Wiethe. A propos de deux observations.

The Urbach-Wiethe disease is a rare condition, where a hyaline substance of an unknown biochemical nature is accumulated in both teguments and mucous membranes. It has an autosomic and recessive genetic transmission. Cutaneous and mucous lesions (especially on the upper digestive tract) are described, insisting about the laryngeal location and the neurological troubles (with their main symptom: intracranial calcifications). The association of the disease with congenital indifference to pain is to be noted. Two particular cases are reported.